Variant report

Variant	rs7786739
Chromosome Location	chr7:127232660-127232661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:127232413-127232835	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr7:127232450-127233302	K562	blood:	n/a	n/a
3	POLR2A	chr7:127232439-127233495	K562	blood:	n/a	n/a
4	POLR2A	chr7:127232526-127233191	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr7:127232494-127232725	HCT-116	colon:	n/a	n/a
6	POLR2A	chr7:127232638-127235426	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr7:127232487-127233696	K562	blood:	n/a	n/a
8	POLR2A	chr7:127232613-127233082	HepG2	liver:	n/a	n/a
9	POLR2A	chr7:127232444-127234468	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr7:127232404-127233356	K562	blood:	n/a	n/a
11	POLR2A	chr7:127232569-127233208	K562	blood:	n/a	n/a
12	POLR2A	chr7:127232380-127232898	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127232149..127233978-chr7:127290816..127293700,2	MCF-7	breast:
2	chr7:127232542..127235287-chr7:127252972..127255661,2	K562	blood:
3	chr7:127227908..127231054-chr7:127231482..127236620,11	MCF-7	breast:
4	chr7:127223375..127232960-chr7:127286940..127295803,24	K562	blood:
5	chr7:127231884..127233633-chr7:127334076..127336132,2	K562	blood:

No data

Variant related genes	Relation type
FSCN3	TF binding region
ENSG00000004059	Chromatin interaction
ENSG00000106331	Chromatin interaction
ENSG00000197157	Chromatin interaction
ENSG00000240790	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2285348	1.00[EUR][1000 genomes]
rs34887879	1.00[EUR][1000 genomes]
rs73450906	1.00[EUR][1000 genomes]
rs9690791	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127229600-127241000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:127229800-127232800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:127229800-127232800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:127229800-127233800	Strong transcription	Fetal Muscle Trunk	muscle
5	chr7:127229800-127234000	Strong transcription	Fetal Brain Female	brain
6	chr7:127229800-127237400	Weak transcription	Right Atrium	heart
7	chr7:127230000-127232800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:127230000-127232800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:127230000-127232800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:127230000-127233000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:127230000-127233000	Weak transcription	Small Intestine	intestine
12	chr7:127230000-127233800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:127230000-127233800	Strong transcription	Fetal Intestine Small	intestine
14	chr7:127230000-127234000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:127230000-127234000	Strong transcription	Fetal Stomach	stomach
16	chr7:127230000-127234400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr7:127230200-127232800	Strong transcription	Fetal Intestine Large	intestine
18	chr7:127230200-127233000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:127230200-127233200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr7:127230200-127234000	Weak transcription	Fetal Brain Male	brain
21	chr7:127230400-127232800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:127230400-127232800	Strong transcription	Placenta	Placenta
23	chr7:127230400-127233200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:127230400-127233200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:127230400-127233200	Strong transcription	Left Ventricle	heart
26	chr7:127230400-127233600	Strong transcription	Fetal Muscle Leg	muscle
27	chr7:127230400-127233600	Weak transcription	K562	blood
28	chr7:127230400-127233800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr7:127230600-127233400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:127230600-127233400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:127230800-127233000	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr7:127230800-127233400	Strong transcription	Primary B cells from cord blood	blood
33	chr7:127230800-127233400	Strong transcription	Thymus	Thymus
34	chr7:127230800-127233600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr7:127231200-127232800	Weak transcription	HSMM	muscle
36	chr7:127231400-127234600	Weak transcription	A549	lung
37	chr7:127231400-127234600	Weak transcription	GM12878-XiMat	blood
38	chr7:127231400-127234600	Weak transcription	HepG2	liver
39	chr7:127231600-127235200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:127231600-127237000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:127231600-127241000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:127231800-127233400	Weak transcription	Stomach Mucosa	stomach
43	chr7:127231800-127233600	Weak transcription	Psoas Muscle	Psoas
44	chr7:127232000-127232800	Weak transcription	NHDF-Ad	bronchial
45	chr7:127232000-127233600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr7:127232000-127233600	Weak transcription	Brain Angular Gyrus	brain
47	chr7:127232000-127233600	Weak transcription	Brain Anterior Caudate	brain
48	chr7:127232000-127233600	Weak transcription	Colonic Mucosa	Colon
49	chr7:127232000-127233600	Weak transcription	Fetal Kidney	kidney
50	chr7:127232000-127233600	Weak transcription	Right Ventricle	heart

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